ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)

gnomAD frequency: 0.00002  dbSNP: rs190786280
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535074 SCV000632818 likely benign Birt-Hogg-Dube syndrome 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573718 SCV000673412 likely benign Hereditary cancer-predisposing syndrome 2022-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001562933 SCV001785779 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327, 28166811, 17028174)
Sema4, Sema4 RCV000573718 SCV002530089 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000121113 SCV002760903 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492423 SCV002790452 uncertain significance Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-10-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001562933 SCV003832709 uncertain significance not provided 2022-01-03 criteria provided, single submitter clinical testing
ITMI RCV000121113 SCV000085281 not provided not specified 2013-09-19 no assertion provided reference population

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